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Asxl2 ASXL transcriptional regulator 2 [ Mus musculus (house mouse) ]

Gene ID: 75302, updated on 5-Mar-2024

Summary

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Official Symbol
Asxl2provided by MGI
Official Full Name
ASXL transcriptional regulator 2provided by MGI
Primary source
MGI:MGI:1922552
See related
Ensembl:ENSMUSG00000037486 AllianceGenome:MGI:1922552
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mKIAA1685; 4930556B16Rik
Summary
This gene encodes a homolog of the Drosophila Asx gene, which interacts with genes involved in axial patterning. Mice with mutations in this gene display abnormal patterning of the axial skeleton, suggesting a similar function in mice as in Drosophila. This gene may also be involved in bone mineral density, specifically osteoclastogenesis. [provided by RefSeq, Aug 2012]
Expression
Ubiquitous expression in liver E14 (RPKM 2.4), CNS E11.5 (RPKM 2.3) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
12 A1.1; 12 1.81 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (3476892..3560811)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (3426857..3510811)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA I920046F24 gene Neighboring gene STARR-seq mESC enhancer starr_31408 Neighboring gene RIKEN cDNA 1110002L01 gene Neighboring gene kinesin family member 3C Neighboring gene STARR-positive B cell enhancer ABC_E4022 Neighboring gene STARR-positive B cell enhancer mm9_chr12:3427648-3427949 Neighboring gene predicted gene, 31332 Neighboring gene STARR-seq mESC enhancer starr_31410 Neighboring gene STARR-seq mESC enhancer starr_31411 Neighboring gene STARR-seq mESC enhancer starr_31412 Neighboring gene ribosomal protein S7, pseudogene 2 Neighboring gene STARR-seq mESC enhancer starr_31413 Neighboring gene STARR-seq mESC enhancer starr_31417 Neighboring gene dystrobrevin, beta Neighboring gene 40S ribosomal protein S26-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Role of Asxl2 in non‑alcoholic steatohepatitis‑related hepatocellular carcinoma developed from diabetes. Hu Z, et al. Int J Mol Med, 2021 Jan. PMID 33155659, Free PMC Article
  2. ASXL2 regulates hematopoiesis in mice and its deficiency promotes myeloid expansion. Madan V, et al. Haematologica, 2018 Dec. PMID 30093396, Free PMC Article
  3. Asxl2(-/-) Mice Exhibit De Novo Cardiomyocyte Production during Adulthood. Brunner R, et al. J Dev Biol, 2016 Nov 3. PMID 29615595, Free PMC Article
  4. Loss of Asxl2 leads to myeloid malignancies in mice. Li J, et al. Nat Commun, 2017 Jun 8. PMID 28593990, Free PMC Article
  5. ASXL1/2 mutations and myeloid malignancies. Medina EA, et al. J Hematol Oncol, 2022 Sep 6. PMID 36068610, Free PMC Article

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ASXL1/2 mutations and myeloid malignancies.
    Title: ASXL1/2 mutations and myeloid malignancies.
  2. BAP1/ASXL complex modulation regulates epithelial-mesenchymal transition during trophoblast differentiation and invasion.
    Title: BAP1/ASXL complex modulation regulates epithelial-mesenchymal transition during trophoblast differentiation and invasion.
  3. Role of Asxl2 in nonalcoholic steatohepatitisrelated hepatocellular carcinoma developed from diabetes.
    Title: Role of Asxl2 in non‑alcoholic steatohepatitis‑related hepatocellular carcinoma developed from diabetes.
  4. Myeloid-specific Asxl2 deletion limits diet-induced obesity by regulating energy expenditure.
    Title: Myeloid-specific Asxl2 deletion limits diet-induced obesity by regulating energy expenditure.
  5. Findings indicate a critical role for additional sex combs-like protein 2 (ASXL2) in maintaining steady state hematopoiesis, and how its loss primes the expansion of myeloid cells.
    Title: ASXL2 regulates hematopoiesis in mice and its deficiency promotes myeloid expansion.
  6. ASXL2 functions as a tumour suppressor to maintain normal Hematopoietic stem cell function.
    Title: Loss of Asxl2 leads to myeloid malignancies in mice.
  7. ASXL2 is essential for haematopoiesis and acts as a haploinsufficient tumour suppressor in leukemia.
    Title: ASXL2 is essential for haematopoiesis and acts as a haploinsufficient tumour suppressor in leukemia.
  8. ASXL2 is a master regulator of skeletal, lipid, and glucose homeostasis
    Title: ASXL2 Regulates Glucose, Lipid, and Skeletal Homeostasis.
  9. Asxl2-/- neonates have patent ductus arteriosus and consequent lung hemorrhage and die soon after birth.
    Title: Additional sex combs-like family genes are required for normal cardiovascular development.
  10. ASXL2 and WTIP are expressed in mouse embryonic epicardial cells. ASXL2 and WTIP participate in regulation of retinoic acid signaling during heart development.
    Title: WTIP interacts with ASXL2 and blocks ASXL2-mediated activation of retinoic acid signaling.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC176101

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables peroxisome proliferator activated receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peroxisome proliferator activated receptor binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within adult heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of bone mineralization involved in bone maturation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of macrophage differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of osteoclast differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of bone mineralization involved in bone maturation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of fat cell differentiation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of lipid storage ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of macrophage differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of osteoclast differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of peroxisome proliferator activated receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of transferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of PR-DUB complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
putative Polycomb group protein ASXL2
Names
additional sex combs like 2, transcriptional regulator
additional sex combs-like protein 2
polycomb group protein ASXH2 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001270988.2 → NP_001257917.1  putative Polycomb group protein ASXL2 isoform 1

    See identical proteins and their annotated locations for NP_001257917.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC155273, AC160138, AK036839, AK080679, BP763544
    UniProtKB/TrEMBL
    B2RUG8, F6WV21
    Conserved Domains (3) summary
    pfam05066
    Location:11 → 83
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:263 → 381
    ASXH; Asx homology domain
    pfam13922
    Location:1356 → 1416
    PHD_3; PHD domain of transcriptional enhancer, Asx

  2. NM_172421.6 → NP_766009.2  putative Polycomb group protein ASXL2 isoform 2

    See identical proteins and their annotated locations for NP_766009.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AC155273, AC160138, AK016141, AK036839, BP763544
    UniProtKB/TrEMBL
    D6REV1, F6WV21, F8VQA8
    Related
    ENSMUSP00000117384.3, ENSMUST00000153102.9
    Conserved Domains (3) summary
    pfam05066
    Location:11 → 83
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:212 → 333
    ASXH; Asx homology domain
    pfam13922
    Location:1308 → 1368
    PHD_3; PHD domain of transcriptional enhancer, Asx

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    3476892..3560811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036157639.1 → XP_036013532.1  putative Polycomb group protein ASXL2 isoform X4

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (4) summary
    PHA03247
    Location:480 → 924
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1307 → 1367
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:11 → 82
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:210 → 332
    ASXH; Asx homology domain

  2. XM_006515239.5 → XP_006515302.1  putative Polycomb group protein ASXL2 isoform X2

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (4) summary
    PHA03247
    Location:528 → 972
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1355 → 1415
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:11 → 82
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:262 → 380
    ASXH; Asx homology domain

  3. XM_036157645.1 → XP_036013538.1  putative Polycomb group protein ASXL2 isoform X8

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:340 → 784
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1167 → 1227
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:74 → 192
    ASXH; Asx homology domain

  4. XM_006515241.2 → XP_006515304.1  putative Polycomb group protein ASXL2 isoform X9

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:292 → 736
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1119 → 1179
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:22 → 144
    ASXH; Asx homology domain

  5. XM_030246969.2 → XP_030102829.1  putative Polycomb group protein ASXL2 isoform X5

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:471 → 915
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1298 → 1358
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:205 → 323
    ASXH; Asx homology domain

  6. XM_036157641.1 → XP_036013534.1  putative Polycomb group protein ASXL2 isoform X7

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:355 → 799
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1182 → 1242
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:89 → 207
    ASXH; Asx homology domain

  7. XM_036157640.1 → XP_036013533.1  putative Polycomb group protein ASXL2 isoform X6

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:457 → 901
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1284 → 1344
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:191 → 309
    ASXH; Asx homology domain

  8. XM_030246972.2 → XP_030102832.1  putative Polycomb group protein ASXL2 isoform X10

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:273 → 717
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1100 → 1160
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:4 → 125
    ASXH; Asx homology domain

  9. XM_036157648.1 → XP_036013541.1  putative Polycomb group protein ASXL2 isoform X10

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:273 → 717
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1100 → 1160
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:4 → 125
    ASXH; Asx homology domain

  10. XM_030246970.2 → XP_030102830.1  putative Polycomb group protein ASXL2 isoform X8

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:340 → 784
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1167 → 1227
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:74 → 192
    ASXH; Asx homology domain

  11. XM_036157644.1 → XP_036013537.1  putative Polycomb group protein ASXL2 isoform X7

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:355 → 799
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1182 → 1242
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:89 → 207
    ASXH; Asx homology domain

  12. XM_036157642.1 → XP_036013535.1  putative Polycomb group protein ASXL2 isoform X7

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:355 → 799
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1182 → 1242
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:89 → 207
    ASXH; Asx homology domain

  13. XM_036157649.1 → XP_036013542.1  putative Polycomb group protein ASXL2 isoform X10

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:273 → 717
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1100 → 1160
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:4 → 125
    ASXH; Asx homology domain

  14. XM_036157646.1 → XP_036013539.1  putative Polycomb group protein ASXL2 isoform X8

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:340 → 784
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1167 → 1227
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:74 → 192
    ASXH; Asx homology domain

  15. XM_036157643.1 → XP_036013536.1  putative Polycomb group protein ASXL2 isoform X7

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:355 → 799
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1182 → 1242
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:89 → 207
    ASXH; Asx homology domain

  16. XM_036157647.1 → XP_036013540.1  putative Polycomb group protein ASXL2 isoform X8

    UniProtKB/TrEMBL
    F6WV21
    Conserved Domains (3) summary
    PHA03247
    Location:340 → 784
    PHA03247; large tegument protein UL36; Provisional
    pfam13922
    Location:1167 → 1227
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:74 → 192
    ASXH; Asx homology domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BZ32.1 GenPept UniProtKB/Swiss-Prot:Q8BZ32

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